Description
ATP-binding cassette, sub-family C (CFTR/MRP), member 8 [Source:HGNC Symbol;Acc:59]
Gene Synonyms
ABC36, HHF1, HI, HRINS, MRP8, PHHI, SUR, SUR1, SUR1delta2, TNDM2
Location
Chromosome 11: 17,414,432-17,498,449 reverse strand.
GRCh37:CM000673.1
About this gene
This gene has 19 transcripts (splice variants), 9 paralogues and is associated with 12 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000302539.4 | ABCC8-201 | 4981 | 1582aa | ENSP00000303960.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q09428 | NM_001287174.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000389817.3 | ABCC8-001 | 4921 | 1581aa | ENSP00000374467.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS31437 | Q09428 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000528374.1 | ABCC8-012 | 611 | 204aa | ENSP00000433638.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
ENST00000527905.1 | ABCC8-002 | 4283 | 997aa | ENSP00000431653.1 | Nonsense mediated decay | E9PK50 Q59GM5 | - | - | |
ENST00000531642.1 | ABCC8-015 | 883 | 62aa | ENSP00000435378.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000526168.1 | ABCC8-013 | 537 | 33aa | ENSP00000437233.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000531891.1 | ABCC8-016 | 440 | 53aa | ENSP00000434893.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000528202.1 | ABCC8-005 | 549 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000532728.1 | ABCC8-003 | 2098 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000526921.1 | ABCC8-008 | 958 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000529967.1 | ABCC8-007 | 836 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000531911.1 | ABCC8-006 | 727 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000524561.1 | ABCC8-010 | 708 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000525022.1 | ABCC8-014 | 675 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000531137.1 | ABCC8-011 | 665 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000526037.1 | ABCC8-018 | 612 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000532220.1 | ABCC8-017 | 611 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000526002.1 | ABCC8-004 | 598 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000530147.1 | ABCC8-009 | 547 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |